http://rdf.disgenet.org/resource/nanopub/NP1092585.RAEoEnprsvMZdkUGBk41eC1HB5oylz1mTY-el_xObicMM130_head http://rdf.disgenet.org/resource/nanopub/NP1092585.RAEoEnprsvMZdkUGBk41eC1HB5oylz1mTY-el_xObicMM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1092585.RAEoEnprsvMZdkUGBk41eC1HB5oylz1mTY-el_xObicMM130_assertion http://rdf.disgenet.org/resource/nanopub/NP1092585.RAEoEnprsvMZdkUGBk41eC1HB5oylz1mTY-el_xObicMM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1092585.RAEoEnprsvMZdkUGBk41eC1HB5oylz1mTY-el_xObicMM130_provenance http://rdf.disgenet.org/resource/nanopub/NP1092585.RAEoEnprsvMZdkUGBk41eC1HB5oylz1mTY-el_xObicMM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1092585.RAEoEnprsvMZdkUGBk41eC1HB5oylz1mTY-el_xObicMM130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1092585.RAEoEnprsvMZdkUGBk41eC1HB5oylz1mTY-el_xObicMM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1092585.RAEoEnprsvMZdkUGBk41eC1HB5oylz1mTY-el_xObicMM130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1092585.RAEoEnprsvMZdkUGBk41eC1HB5oylz1mTY-el_xObicMM130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1092585.RAEoEnprsvMZdkUGBk41eC1HB5oylz1mTY-el_xObicMM130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1092585.RAEoEnprsvMZdkUGBk41eC1HB5oylz1mTY-el_xObicMM130_assertion http://identifiers.org/ncbigene/1836 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C0220726 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/resource/gda/DGNc28943379211467330e782b4863dad95 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1836 http://rdf.disgenet.org/resource/gda/DGNc28943379211467330e782b4863dad95 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0220726 http://rdf.disgenet.org/resource/gda/DGNc28943379211467330e782b4863dad95 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1092585.RAEoEnprsvMZdkUGBk41eC1HB5oylz1mTY-el_xObicMM130_provenance http://rdf.disgenet.org/resource/nanopub/NP1092585.RAEoEnprsvMZdkUGBk41eC1HB5oylz1mTY-el_xObicMM130_assertion http://purl.org/dc/terms/description [Mutations in solute carrier family 26 (sulfate transporter), member 2 (SLC26A2) gene result in a spectrum of autosomal recessive chondrodysplasias that range from the mildest recessive form of multiple epiphysial dysplasia (rMED) through the most common diastrophic dysplasia (DTD) to lethal atelosteogenesis type II and achondrogenesis IB.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1092585.RAEoEnprsvMZdkUGBk41eC1HB5oylz1mTY-el_xObicMM130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP1092585.RAEoEnprsvMZdkUGBk41eC1HB5oylz1mTY-el_xObicMM130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23840040 http://rdf.disgenet.org/resource/nanopub/NP1092585.RAEoEnprsvMZdkUGBk41eC1HB5oylz1mTY-el_xObicMM130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1092585.RAEoEnprsvMZdkUGBk41eC1HB5oylz1mTY-el_xObicMM130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP1092585.RAEoEnprsvMZdkUGBk41eC1HB5oylz1mTY-el_xObicMM130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1092585.RAEoEnprsvMZdkUGBk41eC1HB5oylz1mTY-el_xObicMM http://purl.org/dc/terms/created 2016-05-13T12:50:01+02:00 http://rdf.disgenet.org/resource/nanopub/NP1092585.RAEoEnprsvMZdkUGBk41eC1HB5oylz1mTY-el_xObicMM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1092585.RAEoEnprsvMZdkUGBk41eC1HB5oylz1mTY-el_xObicMM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1092585.RAEoEnprsvMZdkUGBk41eC1HB5oylz1mTY-el_xObicMM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1092585.RAEoEnprsvMZdkUGBk41eC1HB5oylz1mTY-el_xObicMM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1092585.RAEoEnprsvMZdkUGBk41eC1HB5oylz1mTY-el_xObicMM http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1092585.RAEoEnprsvMZdkUGBk41eC1HB5oylz1mTY-el_xObicMM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1092585.RAEoEnprsvMZdkUGBk41eC1HB5oylz1mTY-el_xObicMM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1092585.RAEoEnprsvMZdkUGBk41eC1HB5oylz1mTY-el_xObicMM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1092585.RAEoEnprsvMZdkUGBk41eC1HB5oylz1mTY-el_xObicMM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1092585.RAEoEnprsvMZdkUGBk41eC1HB5oylz1mTY-el_xObicMM http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1092585.RAEoEnprsvMZdkUGBk41eC1HB5oylz1mTY-el_xObicMM http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0